Exfoliation syndrome (XFS) is the commonest known risk factor for secondary glaucoma and a significant cause of blindness worldwide. Variants in two genes, LOXL1 and CACNA1A have been previously associated with XFS. To further elucidate the genetic basis of XFS, we collected a global sample of XFS cases to refine the association at LOXL1, which previously showed inconsistent results between populations, and to identify new variants associated with XFS. We identified a rare, protective allele at LOXL1 (p.407Phe, OR = 25, P =2.9 × 10−14) through deep resequencing of XFS cases and controls from 9 countries. This variant results in increased cellular adhesion strength compared to the wild-type (p.407Tyr) allele. A genome-wide association study (GWAS) of XFS cases and controls from 24 countries followed by replication in 18 countries identified seven genome-wide significant loci (P < 5 × 10−8). Index variants at the new loci map to chromosomes 13q12 (POMP), 11q23.3 (TMEM136), 6p21 (AGPAT1), 3p24 (RBMS3) and 5q23 (near SEMA6A). These findings provide biological insights into the pathology of XFS, and highlight a potential role for naturally occurring rare LOXL1 variants in disease biology.

PurposeTo estimate the frequency of exfoliation syndrome (XFS) and its association with ocular diseases in Northern Nigeria.Materials and methodsConsecutive patients who presented to the outpatient department of ECWA Eye Hospital Kano from February 2015 to May 2015 were included in the study. Each patient had a complete ophthalmic examination. The anterior segment examination included tonometry, gonioscopy, and detailed slit-lamp examination to assess for the presence or absence of exfoliation material, inflammatory cells, and other abnormal findings. Patients with exfoliation material on the anterior lens surface and/or pupillary margin in either or both eyes were considered to have XFS. Statistical analysis was performed using the Statistical Package for the Social Sciences version 16.0.ResultsA total of 620 patients living in Northern Nigeria from the 6 geopolitical zones were examined. The majority of them (34.5%) were indigenous Hausas. There was a male preponderance of 56.6%, while the mean age at presentation for examination in all age groups was 55.7±13.7 years. There were 9 patients with XFS; the frequency was 1.5%, with most of the patients being 70–80 years old. In patients who were ≥50 years, the frequency was 2.5%. Patients with XFS had a higher mean age of 68±4.9 years. The frequency of XFS among glaucoma patients was 4.4%, while among cataract patients it was 3.7%. No other associated ocular disease was found in the patients with XFS.ConclusionThis study shows that XFS does exist in Northern Nigeria, as was found in the South. The prevalence of XFS was, however, not reported in the Nigerian National Blindness and Visual Impairment Survey. Therefore, a population-based study is still needed to determine the true prevalence of XFS in Northern Nigeria.

Background: Glaucoma is a group of diseases that damage the optic nerve in the eye, resulting in vision loss and, in severe cases, blindness. The prevalence of glaucoma and glaucoma blindness is highest in West Africans. Objective: The study presents a 5-year retrospective analysis of intraocular pressure (IOP) and complications after trabeculectomy. Materials and methods: Trabeculectomy was performed using 5 mg/ml of 5-fluorouracil. A gentle diathermy was performed to secure hemostasis. Using a blade fragment of the scleral thickness, a 4×3 mm rectangular scleral flap was dissected. The central part of the flap was dissected 1 mm into the clear cornea. Before being tailed down, the patient was given topical 0.05% dexamethasone qid, 1% atropine tid, and 0.3% ciprofloxacin qid for 4–6 weeks. Patients with pain were given pain relievers, and all patients with photophobia were given sun protection. A successful surgical outcome was defined as a postoperative IOP of 20 mmHg or less. Results: There were 161 patients over the 5-year period under review, with men constituting 70.2% of the total. Out of 275 eyes operated on, 82.9% were bilateral cases, while 17.1% were unilateral. Glaucoma was found in both children and adults aged 11–82 years. However, it was observed to predominate between the ages of 51 and 60, with males having the highest incidence. The average preoperative IOP was 24.37 mmHg, while it was 15.24 mmHg postoperatively. The complication with the highest ranking was shallow anterior chamber (24; 8.73%) due to overfiltration, followed by leaking bleb (8; 2.91%). The most common late complications were cataract (32; 11.64%) and fibrotic bleb (8; 2.91%). Bilateral cataracts developed at an average of 25 months after trabeculectomy. It was seen in patients aged 2–3 with a frequency of 9, whereas 5 years after, 77 patients had improved vision, with a postoperative visual acuity of 6/18-6/6. Conclusion: Postoperatively, the patients had satisfying surgical outcomes as a result of the decrease in preoperative IOP. Although postoperative complications occurred, they had no effect on the surgical outcomes because they were temporary and not optically threatening. In our experience, trabeculectomy is an effective and safe procedure for achieving IOP control.

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